Previous HGNC Symbols for TBX22 Gene

Previous GeneCards Identifiers for TBX22 Gene

Summaries for TBX22 Gene

Entrez Gene Summary for TBX22 Gene

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. {ECO:0000269 PubMed:11559848, ECO:0000269 PubMed:12374769, ECO:0000269 PubMed:14729838}. Note=The disease is caused by mutations affecting the gene represented in this entry.